Results 1 to 10 of about 1,662 (201)

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj   +1 more source

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife, 2023
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta   +17 more
doaj   +1 more source

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

PLoS ONE, 2022
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski   +4 more
doaj   +1 more source

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Skeletal Muscle, 2019
Background Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines.
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro   +9 more
doaj   +1 more source

 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

BMC Neurology, 2023
Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai   +12 more
doaj   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Frontiers in Neurology
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti   +17 more
doaj   +1 more source

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Orphanet Journal of Rare Diseases, 2023
Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders.
Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala   +5 more
doaj   +1 more source

Flexible intramedullary nailing for distal femoral fractures in patients with myopathies

Journal of Children's Orthopaedics, 2012
Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber, Guillaume André, Francine Rumeau, Pierre Journeau, Thierry Haumont, Pierre Lascombes   +5 more
doaj   +1 more source